ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003831021 SCV004635221 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 318 of the DHTKD1 protein (p.Ser318Leu). This variant is present in population databases (rs766731074, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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